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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SORT1

SORT1

309 papers

RefSeq Summary

This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role...

Pfam Domains

Sortilin-Vps10aa 142–572UCSCSortilin, neurotensin receptor 3,

Sortilin_Caa 574–740UCSCSortilin, neurotensin receptor 3, C-terminal

Gene Aliases

HGNC Name

sortilin 1

HGNC Alias Symbols

Gp95; NT3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 251 variants

10 papers

chr1:109345810 T>C

NM_002959.7

p.K302E

c.904A>G

Sortilin-Vps10

Exome: 0.3% (AC=4103, hom=11)Genome: 0.2% (AC=361, hom=0)238 overlapping SVs

10 papers

chr1:109342050 C>A

NM_002959.7

p.D358Y

c.1072G>T

Sortilin-Vps10

Exome: 0.2% (AC=2529, hom=6)Genome: 0.2% (AC=246, hom=2)238 overlapping SVs

8 papers

chr1:109367478 T>C

NM_002959.7

p.I124V

c.370A>G

Exome: 0.4% (AC=5538, hom=17)Genome: 0.3% (AC=509, hom=2)238 overlapping SVs

7 papers

chr1:109355398 C>G

NM_002959.7

p.G171A

c.512G>C

Sortilin-Vps10

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=1, hom=0)237 overlapping SVs

5 papers

chr1:109336271 T>C

NM_002959.7

p.E447G

c.1340A>G

Sortilin-Vps10

Exome: 0.1% (AC=1829, hom=3)Genome: 0.1% (AC=151, hom=0)237 overlapping SVs

4 papers

chr1:109355467 T>A

NM_002959.7

p.E148V

c.443A>T

Sortilin-Vps10

exact variant not in gnomAD237 overlapping SVs

4 papers

chr1:109336281 C>G

NM_002959.7

p.E444Q

c.1330G>C

Sortilin-Vps10

Exome: 1.3% (AC=19478, hom=184)Genome: 1.1% (AC=1689, hom=18)237 overlapping SVs

3 papers

chr1:109397850 G>A

NM_002959.7

p.P15S

c.43C>T

Exome: 0.1% (AC=757, hom=2)Genome: 0.1% (AC=85, hom=0)239 overlapping SVs

3 papers

chr1:109397790 C>A

NM_002959.7

p.D35Y

c.103G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a239 overlapping SVs

3 papers

chr1:109354400 C>A

NM_002959.7

p.Q225H

c.675G>T

Sortilin-Vps10

Exome: 0.0% (AC=139, hom=1)Genome: 0.1% (AC=94, hom=1)237 overlapping SVs

3 papers

chr1:109354400 C>G

NM_002959.7

p.Q225H

c.675G>C

Sortilin-Vps10

exact variant not in gnomAD237 overlapping SVs

3 papers

chr1:109340769 C>T

NM_002959.7

p.V407M

c.1219G>A

Sortilin-Vps10

Exome: 0.0% (AC=217, hom=0)Genome: 0.0% (AC=10, hom=0)238 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."